Ju Yeonjin, Lee Joo Yeon, Hwang Woochang, Shin Jonghyun, Kim Hyung-Sik, Hur Junho K, Lee Eungyung
Department of Pediatric Dentistry, School of Dentistry, Dental and Life Science Institute, Pusan National University, Yangsan 50612, Republic of Korea.
Department of Pediatric Dentistry, Dental Research Institute, Pusan National University Dental Hospital, Yangsan 50612, Republic of Korea.
Diagnostics (Basel). 2025 Jan 28;15(3):310. doi: 10.3390/diagnostics15030310.
: Tooth agenesis (TA) is a developmental anomaly prevalent in humans. It is particularly significant in children and adolescents because it is related to esthetic, physiological, and functional problems, including malocclusion, periodontal damage, and insufficient alveolar growth. mutations have been identified as the main genetic alterations associated with tooth agenesis. Most previous studies have investigated mutations in patients with tooth agenesis using single nucleotide polymorphism (SNP) arrays or exome sequencing. In this study, we conducted a comprehensive profiling of mutations within the exons and introns of in Korean patients with non-syndromic tooth agenesis. : Saliva samples were collected from Korean children and adolescents with non-syndromic tooth agenesis. Tagmentation-based sequencing was conducted to acquire mutation information for all exonic and intronic bases of the gene. : Mutations were detected exclusively in the patient samples: 629C>G and 1100C>T in exon 1, 1977T>C in intron 1, 10256C>T and 10382G>A in exon 3, and 15953G>A in intron 4. Additional mutations were also observed at high ratios in the patient samples. : The mutations identified in this study differ from previous findings. These results may provide useful information for understanding the pathogenicity of mutations in Korean patients with tooth agenesis and support future diagnostic and therapeutic approaches.
牙齿发育不全（TA）是一种在人类中普遍存在的发育异常。它在儿童和青少年中尤为显著，因为它与美学、生理和功能问题相关，包括错牙合、牙周损伤和牙槽骨生长不足。已确定突变是与牙齿发育不全相关的主要基因改变。以前的大多数研究使用单核苷酸多态性（SNP）阵列或外显子组测序来研究牙齿发育不全患者的突变。在本研究中，我们对韩国非综合征性牙齿发育不全患者的该基因外显子和内含子中的突变进行了全面分析。：从韩国非综合征性牙齿发育不全的儿童和青少年中收集唾液样本。进行基于转座酶标签的测序以获取该基因所有外显子和内含子碱基的突变信息。：仅在患者样本中检测到突变：外显子1中的629C>G和1100C>T、内含子1中的1977T>C、外显子3中的10256C>T和10382G>A以及内含子4中的15953G>A。在患者样本中也以高比例观察到其他突变。：本研究中鉴定的突变与先前的发现不同。这些结果可能为理解韩国牙齿发育不全患者中该基因突变的致病性提供有用信息，并支持未来的诊断和治疗方法。
